Linked Data
ClinVar Variation Id:
2790410
ClinVar RCV Id:
RCV003751121
dbSNP Id:
rs774024961
ExAC:
12:57975677 T / G
gnomAD v2:
12-57975677-T-G
gnomAD v4:
12-57581894-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57581894T>G , CM000674.2:g.57581894T>G | GRCh38 |
| NC_000012.11:g.57975677T>G , CM000674.1:g.57975677T>G | GRCh37 |
| NC_000012.10:g.56261944T>G | NCBI36 |
| NG_008155.1:g.36831T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000455537.7:c.2934T>G MANE Select | ENSP00000408979.2:p.Ser978Arg | |
| ENST00000674619.1:c.2955T>G | ENSP00000502270.1:p.Ser985Arg | |
| ENST00000675697.1:c.25T>G | ||
| ENST00000675737.1:n.338T>G | ||
| ENST00000675882.1:n.2457T>G | ||
| ENST00000675929.1:n.1492T>G | ||
| ENST00000676055.1:c.25T>G | ||
| ENST00000676457.1:c.2829T>G | ENSP00000501588.1:p.Ser943Arg | |
| ENST00000286452.5:c.2667T>G | ENSP00000286452.5:p.Ser889Arg | |
| ENST00000455537.6:c.2934T>G | ENSP00000408979.2:p.Ser978Arg | |
| ENST00000552227.1:n.217T>G | ||
| NM_004984.2:c.2934T>G | NP_004975.2:p.Ser978Arg | |
| NM_001354705.1:c.2667T>G | NP_001341634.1:p.Ser889Arg | |
| NM_004984.3:c.2934T>G | NP_004975.2:p.Ser978Arg | |
| XR_002957324.1:n.3167T>G | ||
| NM_004984.4:c.2934T>G MANE Select | NP_004975.2:p.Ser978Arg | |
| NM_001354705.2:c.2667T>G | NP_001341634.1:p.Ser889Arg |